Outcome of partial splenectomy for type I Gaucher disease

Zimran, Ari; Elstein, Deborah; Schiffmann, Raphael; Abrahamov, Ayala; Mj, Goldberg; Bar-Maor, J.A.; Ro, Brady; Guzzetta, Philip C.; Barton, Norman W.

doi:10.1016/s0022-3476(95)70358-6

Cited by 47 publications

(10 citation statements)

References 7 publications

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“…Macrophage-targeted enzyme replacement therapy with imigucerase is safe and effective in reversing or preventing many manifestations of type 1 GD, including hepatosplenomegaly, marrow infiltration, cytopenias, bone crises and osteopenia [16]. ERT with imiglucerase has virtually eliminated the need for splenectomy, which has been associated with pulmonary hypertension, fatal sepsis, advanced liver disease, and rapid progression of bone disease [17][18][19][20][21][22]. However, ERT cannot reverse established avascular necrosis, advanced bone disease, or hepatic, splenic or marrow fibrosis, underscoring the importance of timely treatment before irreversible complications develop [23].…”

Section: Discussionmentioning

confidence: 99%

Consequences of diagnostic delays in type 1 Gaucher disease: The need for greater awareness among Hematologists–Oncologists and an opportunity for early diagnosis and intervention

et al. 2007

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Gaucher disease (GD) is a progressive macrophage lipidosis capable of causing disabling and life-threatening complications. Anecdotal experiences suggest that GD may go undiagnosed for many years, leading to severe complications that are preventable or reversible by enzyme replacement therapy (ERT) with imiglucerase. We conducted surveys of patients and Hematology-Oncology specialists to assess the frequency of diagnostic delays. Additionally, we report a series of patients who suffered diagnostic delays and as a result developed disabilities including potentially life-threatening manifestations of GD. Of 136 patients surveyed, the average time from first appearance of GD symptoms to final diagnosis was 48.7 ± 123.6 months. More than two-thirds were evaluated and managed by a Hematologist-Oncologist (Hem-Onc). A global survey of 406 Hem-Oncs found that only 20% considered GD in the differential diagnosis for all of its classic symptoms (cytopenia, hepatosplenomegaly, bone pain); the diagnosis considered most likely included leukemia, lymphoma, and multiple myeloma. To illustrate actual consequences of diagnostic delays, we describe 14 patients with GD who suffered from symptoms for up to 10 years before correct diagnosis. Diagnostic delays led to complications that are preventable or reversible with ERT (i.e., avascular necrosis, severe bleeding, chronic bone pain, life-threatening sepsis, pathologic fractures, growth failure, liver pathology). Patients homozygous for N370S mutation in this series were vulnerable to diagnostic delays. In conclusion, prolonged diagnostic delays occur in GD and may result in severe disease manifestations. Our findings suggest that physician education will increase the likelihood of prompt detection of GD and improve its management with ERT with imiglucerase when indicated. Am. J. Hematol. 82:697-701, 2007. V

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Section: Discussionmentioning

confidence: 99%

Consequences of diagnostic delays in type 1 Gaucher disease: The need for greater awareness among Hematologists–Oncologists and an opportunity for early diagnosis and intervention

et al. 2007

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“…However, recent reports indicate that the hand-assisted laparoscopic approach can allow partial splenectomy as a safe and bloodless surgery for select patients, although it may not be applicable for patients with the largest spleens or who have limiting anatomical abnormalities [143]. Although classical open partial splenectomy has long been offered to patients with GD1 with variable results [144], there is as yet no report describing the outcome of laparascopic partial splenectomy followed by pharmacotherapy for the exigencies described above in patients with type 1 Gaucher disease.…”

Section: Splenectomy For Hereditary Disorders With Massive Splenomegalymentioning

confidence: 99%

Splenomegaly, hypersplenism, and hereditary disorders with splenomegaly

Weinreb¹,

Rosenbloom²

2013

OJGen

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Splenomegaly, sometimes of massive extent, occurs in a large number of hereditary diseases, some relatively prevalent and others, rare to ultra-rare. Because physicians are often unfamiliar with the less common disorders, patients may suffer because of diagnostic delay or diagnostic error and may undergo invasive, non-innocuous procedures such as splenectomy that are potentially avoidable were the correct diagnosis suspected. In this review article, we discuss the definition and clinical ramifications of "massive" splenomegaly and describe several rare genetic disorders that are sometimes associated with marked splenic enlargement as well as four additional hereditary "splenomegalic" lysosomal storage diseases (cholesterol esterase storage disease, Niemann-Pick C disease, acid sphingomyelinase deficiency disease, Gaucher disease) in which approved or promising experimental treatments should generally obviate the need for palliative splenectomy. We also summarize current concepts about the appropriate use of splenectomy in patients with β-thalassemia, hereditary spherocytosis and Gaucher disease and discuss surgical alternatives to classical total splenectomy for these disorders.

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“…Importantly, improved MRI signals with ERT are not necessarily clinically relevant since no definitive correlation exists between MRI findings and incidence/severity of skeletal complications such as avascular necrosis. 59 The most probable advantage for patients prone to bone disease (beyond not undergoing total 60 or partial splenectomy), 61 is early administration of ERT as preventative, especially in children. 62 This premise is based on fewer cases of avascular necrosis among children born after ERT availability relative to children growing up before availability of ERT.…”

Section: Ert For Bone Diseasementioning

confidence: 99%

Review of the safety and efficacy of imiglucerase treatment of Gaucher disease

Elstein¹

2009

BTT

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Abstract:Most patients who suffer from symptomatic Gaucher disease will benefit from enzyme replacement therapy (ERT) with imiglucerase. The safety profile is excellent, only a small percentage of those exposed developing antibodies; similarly, very few patients require pre-medication for allergic reactions. Within 3 to 5 years of imiglucerase therapy, best documented at doses of 30 to 60 units/kg/infusion, hepatosplenomegaly can be expected to be reduced so that the liver volume will be maintained at 1 to 1.5 times normal (30% to 40% reduction from advent of ERT) and spleen volume to 2 to 8 times normal (50% to 60% reduction from advent of ERT). For anemic and thrombocytopenic patients, with 2 to 5 years of imiglucerase, hemoglobin levels are expected to be 11 g/dL for women and children and 12 g/dL for men; and platelet counts in patients with an intact spleen, depending on the baseline value, should approximately be doubled. Bone crises and bone pain but not irreversible skeletal damage will improve in most patients. Nonetheless, some features and some symptomatic patients apparently do not respond equally well and/or perhaps inadequately. The benefit for patients with the neuronopathic forms is primarily in improved visceral and hematological signs and symptoms. There are still several unresolved issues, the high per-unit cost being an important one, which have spurred the development of biosimilar enzymes as well as chaperone therapies currently in clinical trials.

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Outcome of partial splenectomy for type I Gaucher disease

Cited by 47 publications

References 7 publications

Consequences of diagnostic delays in type 1 Gaucher disease: The need for greater awareness among Hematologists–Oncologists and an opportunity for early diagnosis and intervention

Consequences of diagnostic delays in type 1 Gaucher disease: The need for greater awareness among Hematologists–Oncologists and an opportunity for early diagnosis and intervention

Splenomegaly, hypersplenism, and hereditary disorders with splenomegaly

Review of the safety and efficacy of imiglucerase treatment of Gaucher disease

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